A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684355



Internal ID15074321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:9903782..9917378hg38UCSC Ensembl
Innerchr17:9807099..9820695hg19UCSC Ensembl
Innerchr17:9747824..9761420hg18UCSC Ensembl
Innerchr17:9747824..9761420hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3813597
hg1913597
hg1813597
hg1713597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516119
Supporting Variants
Samples
Known GenesGAS7, RCVRN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684355
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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